BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

349 related articles for article (PubMed ID: 28175301)

  • 1. Mutations in MSH5 in primary ovarian insufficiency.
    Guo T; Zhao S; Zhao S; Chen M; Li G; Jiao X; Wang Z; Zhao Y; Qin Y; Gao F; Chen ZJ
    Hum Mol Genet; 2017 Apr; 26(8):1452-1457. PubMed ID: 28175301
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.
    de Vries L; Behar DM; Smirin-Yosef P; Lagovsky I; Tzur S; Basel-Vanagaite L
    J Clin Endocrinol Metab; 2014 Oct; 99(10):E2129-32. PubMed ID: 25062452
    [TBL] [Abstract][Full Text] [Related]  

  • 3. STAG3 truncating variant as the cause of primary ovarian insufficiency.
    Le Quesne Stabej P; Williams HJ; James C; Tekman M; Stanescu HC; Kleta R; Ocaka L; Lescai F; Storr HL; Bitner-Glindzicz M; Bacchelli C; Conway GS;
    Eur J Hum Genet; 2016 Jan; 24(1):135-8. PubMed ID: 26059840
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Heterozygous FMN2 missense variant found in a family case of premature ovarian insufficiency.
    Li J; Peng T; Wang L; Long P; Quan R; Tan H; Zeng M; Wu X; Yang J; Xiao H; Shi X
    J Ovarian Res; 2022 Feb; 15(1):31. PubMed ID: 35227295
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing.
    Wang B; Li L; Zhu Y; Zhang W; Wang X; Chen B; Li T; Pan H; Wang J; Kee K; Cao Y
    Hum Reprod; 2017 Oct; 32(10):2138-2146. PubMed ID: 28938739
    [TBL] [Abstract][Full Text] [Related]  

  • 6.
    He WB; Tu CF; Liu Q; Meng LL; Yuan SM; Luo AX; He FS; Shen J; Li W; Du J; Zhong CG; Lu GX; Lin G; Fan LQ; Tan YQ
    J Med Genet; 2018 Mar; 55(3):198-204. PubMed ID: 29331980
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Whole-exome sequencing identifies a homozygous donor splice-site mutation in STAG3 that causes primary ovarian insufficiency.
    He WB; Banerjee S; Meng LL; Du J; Gong F; Huang H; Zhang XX; Wang YY; Lu GX; Lin G; Tan YQ
    Clin Genet; 2018 Feb; 93(2):340-344. PubMed ID: 28393351
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Rare deleterious BUB1B variants induce premature ovarian insufficiency and early menopause.
    Chen Q; Ke H; Luo X; Wang L; Wu Y; Tang S; Li J; Jin L; Zhang F; Qin Y; Chen X
    Hum Mol Genet; 2020 Sep; 29(16):2698-2707. PubMed ID: 32716490
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency.
    Peng T; Lv C; Tan H; Huang J; He H; Wang Y; Zeng M; Yi D; Li J; Deng H; Shi X; Xiao H
    J Assist Reprod Genet; 2020 Feb; 37(2):443-450. PubMed ID: 31902100
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic investigation of four meiotic genes in women with premature ovarian failure.
    Mandon-Pépin B; Touraine P; Kuttenn F; Derbois C; Rouxel A; Matsuda F; Nicolas A; Cotinot C; Fellous M
    Eur J Endocrinol; 2008 Jan; 158(1):107-15. PubMed ID: 18166824
    [TBL] [Abstract][Full Text] [Related]  

  • 11. STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
    Jaillard S; McElreavy K; Robevska G; Akloul L; Ghieh F; Sreenivasan R; Beaumont M; Bashamboo A; Bignon-Topalovic J; Neyroud AS; Bell K; Veron-Gastard E; Launay E; van den Bergen J; Nouyou B; Vialard F; Belaud-Rotureau MA; Ayers KL; Odent S; Ravel C; Tucker EJ; Sinclair AH
    Mol Hum Reprod; 2020 Sep; 26(9):665-677. PubMed ID: 32634216
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Homozygous variants in
    He WB; Tan C; Zhang YX; Meng LL; Gong F; Lu GX; Lin G; Du J; Tan YQ
    J Med Genet; 2021 Mar; 58(3):168-172. PubMed ID: 32303603
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature.
    Wang F; Guo S; Li P
    Mol Genet Genomic Med; 2020 Sep; 8(9):e1396. PubMed ID: 32652893
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency.
    Fauchereau F; Shalev S; Chervinsky E; Beck-Fruchter R; Legois B; Fellous M; Caburet S; Veitia RA
    Clin Genet; 2016 May; 89(5):603-7. PubMed ID: 26771056
    [TBL] [Abstract][Full Text] [Related]  

  • 15. New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family.
    Bouali N; Francou B; Bouligand J; Imanci D; Dimassi S; Tosca L; Zaouali M; Mougou S; Young J; Saad A; Guiochon-Mantel A
    Fertil Steril; 2017 Oct; 108(4):694-702. PubMed ID: 28863940
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation.
    Heddar A; Beckers D; Fouquet B; Roland D; Misrahi M
    J Clin Endocrinol Metab; 2020 Jun; 105(6):. PubMed ID: 32242235
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency.
    Chen B; Li L; Wang J; Li T; Pan H; Liu B; Zhou Y; Cao Y; Wang B
    J Ovarian Res; 2018 Jun; 11(1):48. PubMed ID: 29914564
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.
    Al-Agha AE; Ahmed IA; Nuebel E; Moriwaki M; Moore B; Peacock KA; Mosbruger T; Neklason DW; Jorde LB; Yandell M; Welt CK
    J Clin Endocrinol Metab; 2018 Feb; 103(2):555-563. PubMed ID: 29240891
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel inactivating mutations in the FSH receptor cause premature ovarian insufficiency with resistant ovary syndrome.
    He WB; Du J; Yang XW; Li W; Tang WL; Dai C; Chen YZ; Zhang YX; Lu GX; Lin G; Gong F; Tan YQ
    Reprod Biomed Online; 2019 Mar; 38(3):397-406. PubMed ID: 30691934
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency.
    Zhe J; Chen S; Chen X; Liu Y; Li Y; Zhou X; Zhang J
    J Ovarian Res; 2019 Jul; 12(1):61. PubMed ID: 31279343
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.